Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000573840 | SCV000665377 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-06-23 | criteria provided, single submitter | clinical testing | The p.E1036V variant (also known as c.3107A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 3107. The glutamic acid at codon 1036 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| University of Washington Department of Laboratory Medicine, |
RCV000573840 | SCV003851691 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478227 | SCV004219570 | uncertain significance | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, this variant was classified using Bayesian approaches (PMID: 31911673 (2020)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |